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Here we describe a combined approach to identify and characterize a genetic disorder that leverages distantly related patients in a health system and population-scale mapping. We utilize genomic data to uncover components of distant pedigrees, in the absence of recorded pedigree information, in the multi-ethnic Bio\n                    <jats:italic>Me<\/jats:italic>\n                    biobank in New York City. By linking to medical records, we discover a locus associated with both elevated genetic relatedness and extreme short stature. We link the gene,\n                    <jats:italic>COL27A1<\/jats:italic>\n                    , with a little-known genetic disease, previously thought to be rare and recessive. We demonstrate that disease manifests in both heterozygotes and homozygotes, indicating a common collagen disorder impacting up to 2% of individuals of Puerto Rican ancestry, leading to a better understanding of the continuum of complex and Mendelian disease.\n                  <\/jats:p>","DOI":"10.7554\/elife.25060","type":"journal-article","created":{"date-parts":[[2017,9,11]],"date-time":"2017-09-11T20:00:19Z","timestamp":1505160019000},"update-policy":"https:\/\/doi.org\/10.7554\/elife.25060","source":"Crossref","is-referenced-by-count":80,"title":["Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system"],"prefix":"10.7554","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9036-864X","authenticated-orcid":true,"given":"Gillian Morven","family":"Belbin","sequence":"first","affiliation":[{"name":"The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, 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